metabolic acidosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A lactic acidosis that has_material_basis_in high levels of acid. (Human Disease Ontology, DOID_0050758)
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61 genes associated with the metabolic acidosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
AGXT alanine-glyoxylate aminotransferase
ALDOB aldolase B, fructose-bisphosphate
AUH AU RNA binding protein/enoyl-CoA hydratase
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BTD biotinidase
CA5A carbonic anhydrase VA, mitochondrial
CTNS cystinosin, lysosomal cystine transporter
CUL3 cullin 3
DLD dihydrolipoamide dehydrogenase
DPYS dihydropyrimidinase
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
FBP1 fructose-1,6-bisphosphatase 1
FH fumarate hydratase
GALT galactose-1-phosphate uridylyltransferase
GCDH glutaryl-CoA dehydrogenase
GFM1 G elongation factor, mitochondrial 1
GK glycerol kinase
GLYCTK glycerate kinase
GSS glutathione synthetase
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HPD 4-hydroxyphenylpyruvate dioxygenase
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
INVS inversin
IVD isovaleryl-CoA dehydrogenase
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
LCT lactase
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCEE methylmalonyl CoA epimerase
MLYCD malonyl-CoA decarboxylase
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MRPS22 mitochondrial ribosomal protein S22
MTO1 mitochondrial tRNA translation optimization 1
MUT methylmalonyl CoA mutase
NR3C2 nuclear receptor subfamily 3, group C, member 2
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDHX pyruvate dehydrogenase complex, component X
PNPO pyridoxamine 5'-phosphate oxidase
RYR1 ryanodine receptor 1 (skeletal)
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
TUFM Tu translation elongation factor, mitochondrial
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
UQCRB ubiquinol-cytochrome c reductase binding protein
UQCRC2 ubiquinol-cytochrome c reductase core protein II
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VTI1A vesicle transport through interaction with t-SNAREs 1A
WNK1 WNK lysine deficient protein kinase 1